Variant report

Variant	esv3474097
Chromosome Location	chr6:74613496-74620534
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 332 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:332 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183511326	chr6:74613512-74613513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12111388	chr6:74613557-74613558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564525473	chr6:74613583-74613584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551799058	chr6:74613639-74613640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571540212	chr6:74613640-74613641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576199242	chr6:74613644-74613645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184359260	chr6:74613656-74613657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187082867	chr6:74613687-74613688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545181305	chr6:74613698-74613699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563666872	chr6:74613709-74613710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529333600	chr6:74613722-74613723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113528403	chr6:74613742-74613743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568332341	chr6:74613755-74613756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191480425	chr6:74613772-74613773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527594369	chr6:74613776-74613777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146062296	chr6:74613777-74613778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111734502	chr6:74613780-74613781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112816771	chr6:74613783-74613784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112600029	chr6:74613798-74613799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570569014	chr6:74613812-74613813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548721785	chr6:74613824-74613825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554067356	chr6:74613825-74613826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538010358	chr6:74613826-74613827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113093547	chr6:74613848-74613849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560901660	chr6:74613852-74613853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568194610	chr6:74613927-74613928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535532604	chr6:74613934-74613935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150345798	chr6:74613941-74613942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188796833	chr6:74613945-74613946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181346534	chr6:74613949-74613950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4706561	chr6:74614009-74614010	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs539750569	chr6:74614020-74614021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558405235	chr6:74614023-74614024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576308796	chr6:74614027-74614028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142842224	chr6:74614035-74614036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140805727	chr6:74614053-74614054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2118334	chr6:74614054-74614055	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs182233288	chr6:74614087-74614088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114666665	chr6:74614111-74614112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186621458	chr6:74614119-74614120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544769872	chr6:74614121-74614122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533323709	chr6:74614136-74614137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146094631	chr6:74614137-74614138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530231754	chr6:74614138-74614139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538867826	chr6:74614167-74614168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192684956	chr6:74614208-74614209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140000810	chr6:74614218-74614219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185474438	chr6:74614256-74614257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2882705	chr6:74614258-74614259	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs547426423	chr6:74614266-74614267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74613400-74619400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:74616000-74619400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:74619400-74620000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:74619400-74620200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:74619600-74620000	ZNF genes & repeats	Gastric	stomach

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